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Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novel CLCN5 and OCRL variants

Objective This study aims to elucidate the genetic and phenotypic characteristics of pediatric patients with potential Dent disease (DD).Methods High-throughput sequencing was conducted on 11 pediatric patients with potential cases of DD. We also analyzed clinical phenotype and treatment regimens.Re...

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Bibliografische gegevens
Hoofdauteurs: Xinyi Jiang, Hongzhou Lin, Qifan Zhu, Huihui Chen, Yutong Huang, Xiu-Feng Huang, Dexuan Wang
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Taylor & Francis Group 2025-12-01
Reeks:Renal Failure
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Online toegang:https://www.tandfonline.com/doi/10.1080/0886022X.2025.2476222
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